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  Mutations in Autism Susceptibility Candidate 2 (AUTS2) in patients with mental retardation

Kalscheuer, V. M., FitzPatrick, D., Tommerup, N., Bugge, M., Niebuhr, E., Neumann, L. M., et al. (2007). Mutations in Autism Susceptibility Candidate 2 (AUTS2) in patients with mental retardation. Human Genetics, 121(3-4), 501-509. doi:10.1007/s00439-006-0284-0.

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Genre: Zeitschriftenartikel
Alternativer Titel : Hum. Genet.

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 Urheber:
Kalscheuer, Vera M.1, Autor           
FitzPatrick, David, Autor
Tommerup, Niels, Autor
Bugge, Merete, Autor
Niebuhr, Erik, Autor
Neumann, Luitgard M., Autor
Tzschach, Andreas2, Autor           
Shoichet, Sarah A.2, Autor           
Menzel, Corinna3, Autor
Erdogan, Fikret2, Autor           
Arkesteijn, Ger, Autor
Ropers, Hans-Hilger2, Autor           
Ullmann, Reinhard4, Autor           
Affiliations:
1Chromosome Rearrangements and Disease (Vera Kalscheuer), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479642              
2Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              
3Max Planck Society, ou_persistent13              
4Molecular Cytogenetics (Reinhard Ullmann), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479645              

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 Zusammenfassung: We report on three unrelated mentally disabled patients, each carrying a de novo balanced translocation that truncates the autism susceptibility candidate 2 (AUTS2) gene at 7q11.2. One of our patients shows relatively mild mental retardation; the other two display more profound disorders. One patient is also physically disabled, exhibiting urogenital and limb malformations in addition to severe mental retardation. The function of AUTS2 is presently unknown, but it has been shown to be disrupted in monozygotic twins with autism and mental retardation, both carrying a translocation t(7;20)(q11.2;p11.2) (de la Barra et al. in Rev Chil Pediatr 57:549–554, 1986; Sultana et al. in Genomics 80:129–134, 2002). Given the overlap of this autism/mental retardation (MR) phenotype and the MR-associated disorders in our patients, together with the fact that mapping of the additional autosomal breakpoints involved did not disclose obvious candidate disease genes, we ascertain with this study that AUTS2 mutations are clearly linked to autosomal dominant mental retardation.

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Sprache(n): eng - English
 Datum: 2007-01-09
 Publikationsstatus: Erschienen
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Titel: Human Genetics
  Alternativer Titel : Hum. Genet.
Genre der Quelle: Zeitschrift
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Seiten: - Band / Heft: 121 (3-4) Artikelnummer: - Start- / Endseite: 501 - 509 Identifikator: ISSN: 0340-6717